Genetic Variations in ADIPOQ Gene Are Associated with Chronic Obstructive Pulmonary Disease

Abstract

BackgroundAdiponectin is reported to be related to the development of chronic obstructive pulmonary disease (COPD). Genetic variants in the gene encoding adiponectin (ADIPOQ) have been reported to be associated with adiponectin level in several genome–wide linkage and association studies. However, relatively little is known about the effects of ADIPOQ gene variants on COPD susceptibility. We determined the frequencies of single-nucleotide polymorphisms (SNPs) in ADIPOQ in a Chinese Han population and their possible association with COPD susceptibility.MethodsWe conducted a case–control study of 279 COPD patients and 367 age- and gender-distribution-matched control subjects. Seven tagging SNPs in ADIPOQ, including rs710445, rs16861205, rs822396, rs7627128, rs1501299, rs3821799 and rs1063537 were genotyped by SNaPshot. Association analysis of genotypes/alleles and haplotypes constructed from these loci with COPD was conducted under different genetic models.ResultsThe alleles or genotypes of rs1501299 distributed significantly differently in COPD patients and controls (allele: P = 0.002, OR = 1.43 and 95%CI = 1.14–1.79; genotype: P = 0.008). The allele A at rs1501299 was potentially associated with an increased risk of COPD in all dominant model analysis (P = 0.009; OR: 1.54; 95%CI: 1.11–2.13), recessive model analyses (P = 0.015; OR: 1.75; 95% CI: 1.11–2.75) and additive model analyses (P = 0.003; OR: 2.11; 95% CI: 1.29–3.47). In haplotype analysis, we observed haplotypes AAAAACT and GGACCTC had protective effects, while haplotypes AGAACTC, AGGCCTC, GGAACTC, GGACACT and GGGCCTC were significantly associated with the increased risk of COPD.ConclusionsWe conducted the first investigation of the association between the SNPs in ADIPOQ and COPD risk. Our current findings suggest that ADIPOQ may be a potential risk gene for COPD. Further studies in larger groups are warranted to confirm our results.

Genetic variants of CDH13 determine the susceptibility to chronic obstructive pulmonary disease in a Chinese population

“…General characteristics of the subjects The baseline characteristics, the biochemical features and the results of the pulmonary function tests of the subjects in this study have been reported in our previous articles [12,21,22] and are presented in supplementary Table S2. All patients had FEV1 values <80% of predicted, and thus were diagnosed with moderate to severe COPD according to the Global Initiative for Chronic Obstructive Lung Disease [23] (classification of severity: mild=FEV1≥80% of predicted; moderate=FEV1≥50% to <80% of predicted; severe=FEV1≥30% to <50% of predicted; and very severe=FEV1<30% of predicted).…”

“…The subjects in this study were recruited for our previous studies [12,21,22] . Briefly, we investigated 646 unrelated ethnic Han Chinese individuals including 279 COPD patients and 367 age-matched control individuals.…”

“…SNPs were genotyped using the ABI SNaPshot method (Applied Biosystems, Foster City, CA, USA) as described previously [12,22] . Briefly, the PCR products (see supplementary Table S1 for primers) were purified by incubating with shrimp alkaline phosphatase and exo-nuclease I.…”

“…Adiponectin also contributes to the development of emphysema [7] . Moreover, genetic variants in the adiponectin gene have been associated with plasma adiponectin levels and COPD risk in a Chinese population [12] . Twin and family studies have demonstrated an estimated 30%-70% heritability for circulating adiponectin levels [13] .…”

Genetic Variants of Retinoic Acid Receptor-Related Orphan Receptor Alpha Determine Susceptibility to Type 2 Diabetes Mellitus in Han Chinese

“…SNPs were genotyped using the SNaPshot method as described previously [20]. Briefly, DNA fragments containing SNPs were amplified by PCR using primers in Supplemental Table S1.…”